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Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

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Authors
Haraldsdottir, Sigurdis
Rafnar, Thorunn
Frankel, Wendy L
Einarsdottir, Sylvia
Sigurdsson, Asgeir
Hampel, Heather
Snaebjornsson, Petur
Masson, Gisli
Weng, Daniel
Arngrimsson, Reynir
Kehr, Birte
Yilmaz, Ahmet
Haraldsson, Stefan
Sulem, Patrick
Stefansson, Tryggvi
Shields, Peter G
Sigurdsson, Fridbjorn
Bekaii-Saab, Tanios
Moller, Pall H
Steinarsdottir, Margret
Alexiusdottir, Kristin
Hitchins, Megan
Pritchard, Colin C
de la Chapelle, Albert
Jonasson, Jon G
Goldberg, Richard M
Stefansson, Kari
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Issue Date
2017-05-03

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Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 2017, 8:14755 Nat Commun
Abstract
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry. Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethylation or mutations in the mismatch repair genes. The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk. We find thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk. We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations.
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https://www.nature.com/articles/ncomms14755.pdf
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Archived with thanks to Nature communications
ae974a485f413a2113503eed53cd6c53
10.1038/ncomms14755
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